View genomic variant #0000003645

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.32834612G>T
Published as -
GERP 5.510
Segregation -
DB-ID DMD_000002
MSCV MSCV_0003645
dbSNP ID rs128626236
Frequency -
Sources ; clinvar;
Reference 7951253
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
DMD 00003242 NM_004006.2 0000003645 +/+ c.503C>A p.(Ala168Asp) missense_variant - 6/79 probably_damaging(0.997) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000011981;
Chromosome X:32834612..32834612
ClinVar Allele ID 26269
Disease database name and identifier MedGen:C0917713, OMIM:300376, Orphanet:ORPHA98895, SNOMED CT:387732009
ClinVar preferred disease name Becker muscular dystrophy
HGVS variant names NC 000023.10:g.32834612G>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:300377.0033
Gene symbol:Gene id. DMD:1756
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 128626236
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs128626236X3283461232834612G/TOMIM phenotype variantsBECKER MUSCULAR DYSTROPHY
CM940338X3283461232834612HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available